Nonclassic congenital adrenal hyperplasia and the heterozygote carrier

Abstract

This article discusses the difficulty of differentiating three causes of adult androgen excess including nonclassic congenital adrenal hyperplasia caused by 21-hydroxylase deficiency, polycystic ovarian syndrome and heterozygote carrier of CYP21 mutations based on clinical findings. It also reviews the screening modalities that discriminate patients with nonclassic congenital adrenal hyperplasia and the heterozygote carrier of CYP21 mutations from the normal population. In addition, the current management of hyperandrogenism and ovulatory dysfunction in these patients is described.

Keywords::

• 21-hydroxylase deficiency
• diagnosis
• heterozygote carrier
• hyperandrogenism
• nonclassic congenital adrenal hyperplasia
• treatment

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.